Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion

Background: Coffin–Lowry syndrome (CLS) [OMIM#303600] is a rare X-linked dominant syndrome. CLS is caused by highly heterogeneous loss-of-function mutations in the RPS6KA3 gene (OMIM*300,075). CLS is characterized by intellectual disability (ID), short stature, tapered fingers, characteristic facial...

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Bibliographic Details
Main Authors: Yan Cong, Hongxing Jin, Ke Wu, Hao Wang, Dong Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
Coffin–Lowry syndrome
loss-of-function
intellectual disability
menstrual disorder
whole-exome sequencing
RPS6KA3 c.898C>T mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.900226/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.900226/full

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